* Enrolment in an appropriate educational program for the hearingimpaired. * Computed tomography of the temporal bones, especially if there is evidence of progressive hearingimpairment. * Full kidney screening (urine, bloods and ultrasounds) followed[thecainfoundation.com]

Hearing loss is treated based on the cause of the hearingimpairment. Usually those with conductive hearing loss benefit from therapy and may be prescribed hearing aids.[news-medical.net]

Other interventions may include speech therapy for motor dysfunction; occupational and physical therapy; educational support, special programs for the visuallyimpaired; and feedings through a gastrostomis tube.[centogene.com]

Skin

We report monozygotic twin girls with a combination of bilateral severe sensorineural deafness diagnosed at the age of 3 years, normal primary dentition but enamel hypoplasia affecting the secondary dentition and Beau's lines and leukonychia of the nails[ncbi.nlm.nih.gov]

Hereditary leukonychia manifests at birth or early infancy, whereas the acquired type appears in childhood. Leukonychia can be a true leukonychia involving the nail plate.[e-ijd.org]

She had a faircomplexion (fig 1 ) and examination of her nails showed multiple transverse grooves (Beau's lines) on several fingers and toes (fig 2 A, B). There was no evidence of leuconychia.[jmg.bmj.com]

Musculoskeletal

PEX 1 is located on longarm of chromosome 7 (7q21).2 PEX 6 is located on the short arm of chromosome 6 (6p21). These genes encode AAA ATPases.[en.wikipedia.org]

Workup

[…] mitochondrial and peroxisomal fission among patients with unexplained lactic acidemia. 24 Assessment of the morphologic characteristic of mitochondria in cultured cells with the use of a fluorescent probe could serve as an informative step in the diagnostic workup[nejm.org]

Treatment

Treatment [ edit ] There is no treatment for this condition known at present. Prognosis [ edit ] This condition tends to produce only mild abnormalitis.[en.wikipedia.org]

Visual acuity in patient 1 was 20/80 and 20/25 following treatment of intraretinal cystoid spaces with carbonic anhydrase inhibitors, while patient 2 had visual acuity of 20/20 in both eyes without intraretinal cysts.[ncbi.nlm.nih.gov]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice .[uniprot.org]

Prognosis

Etiology

They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[orpha.net]

It is suggested that investigation of the emotional and social environment may be fruitful in many cases of growth retardation of "undetermined etiology." Received March 29, 1962. Accepted June 8, 1962.[pediatrics.aappublications.org]

Epidemiology

Epidemiology [ edit ] This is rare disorder. Precise estimates of its prevelence are not known but it appears be to be 1/10 6 Diagnosis [ edit ] The diagnosis is made on clinical grounds and confirmed by gene sequencing.[en.wikipedia.org]

Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular[books.google.de]

Owing to the efforts of a working group of the Commission on Oral Health, Research and Epidemiology of the International Dental Federation (FDI), a standardized terminology,which accompanies the FDI (DDE) Index, has been established [21,22].[austinpublishinggroup.com]